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2011-06-28-15 Online Continuing Medical Education: Abdominal wall defects, Part I © www.TheFetus.net
Abdominal wall defects, Part I: Online Continuing Medical Education

This course was jointly developed by Institute for Advanced Medical Education (IAME)
This activity has been planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the Institute for Advanced Medical Education and TheFetus.net. The Institute for Advanced Medical Education is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
 
The Institute for Advanced Medical Education designates this enduring material for a maximum of 1 Category 1 credit toward the AMA Physicians Recognition Award. Each physician should claim only those credits that he/she actually spent in the educational activity.
The American Registry of Diagnostic Medical Sonographers (ARDMS) accepts AMA Category 1 credits.


Course: Abdominal wall defects, Part I

Faculty: Eva Leinart, MD., Philippe Jeanty, MD. PhD.


Course objectives:
After completing this course, the participant should be able:
  • to recognize the main abdominal wall defects
  • to discuss differential diagnoses of these conditions
  • to discuss the prognosis with the parents

Target audience: Physicians, sonographers and others who perform and/or interpret OB ultrasound.


Instructions: This Internet-based tutorial requires that you read through the text and related images in their entirety. You may read it from your browser or from hard copy after printing it out. In addition, it is suggested that you refer to references in the bibliography to reinforce the information presented by the author. Following completion of the tutorial, click on "Take the Quiz". After scoring a passing score of 70% or higher you will be taken to a secure payment page where you will have the opportunity to pay the CME fee and receive your certificate.

System requirements: In order to complete this program you must have a computer with a recent version of Internet Explorer or Netscape, and a printer, which is configured to print from the browser. 

Volume Pricing: This course is $25.00 for 1 credit. You will receive your CME credits and certificate for this course. Four credit hours for $60.00. ($15.00 per credit). You will receive your credits and certificate for this course plus 2 vouchers which you can use immediately or at a future date. Eight credit hours are $80.00. ($10.00 per credit). You will receive your credit and certificate for this course plus 6 vouchers which you can use immediately or at a future date.

Customer Assistance: For any questions or problems concerning this program, or for problems related to the printing of the certificate, please contact IAME at 802-824-4433 or info@iame.com
 
Estimated time for completion of tutorial: approximately 50 minutes

Date of review and release: October, 2011

Expiration Date: October, 2014


Disclosure: In compliance with the Essentials and Standards of the ACCME, the author of this CME tutorial is required to disclose any significant financial or other relationships they may have with the manufacturer(s) of any commercial product(s) or provider(s) of any commercial service(s) discussed in this program.
Drs. Leinart and Jeanty have indicated that they have no such relationships to disclose.

Omphalocele

Omphalocele is a midline abdominal wall defect with herniation of  the abdominal content into the base of the umbilical cord.
Omphalocele has to be differentiated from the physiologic bowel herniation which starts around 8th week of gestation. This is considered a normal sonographic finding and presents as a mass at umbilical cord insertion. It never contains herniated liver and is usually smaller than 7 mm in diameter. This physiological midgut herniation disappears before 12 weeks of gestation.

Incidence

Isolated omphalocele occurs in approximately  0.5 in 10,000 live births. It appears to be more common in pregnant women of extreme reproductive ages (less than 20 and more than 40 years old.[1] Prenatal detection has significantly increased with a  wide use of the prenatal ultrasound and alpha-fetoprotein screening.

Pathogenesis

Omphalocele results of disturbances during the embryonic period. There are three main theories in the etiology of omphalocele formation[2].
1) Persistence of the primitive body stalk
2) Failure of the bowel to return to the abdominal cavity
3) Failure of complete lateral-body migration and closure of the body wall
The rapid growth of the intestine and liver around 6th week of embryonic development (8th week of gestation) causes the protrusion of the intestines into extraembryonic coelom around the base of the umbilical cord, this causes a temporary physiologic bowel herniation. This herniation should not be visible beyond the 12th week of gestation.

If the intestine fails to return into the abdominal cavity, the simple midline omphalocele develops. Omphalocele can be caused by the failure of the abdominal wall closure. In that case, not only intestine but also other intraabdominal organs such as liver may be present in the omphalocele.

Diagnosis

The omphalocele can be diagnosed by prenatal sonography. Elevated maternal serum alpha-fetoprotein (AFP) is a associated with abdominal wall defects.

Ultrasound findings

Omphalocele looks like a central mass protruding from the anterior abdominal wall. It varies in size and is covered by a membrane. It usually contains small intestine and liver. There can be other organs protruding to the omphalocele such as large intestine, bladder, stomach, spleen.

The umbilical cord insertion is usually in the membranes in the midline of omphalocele. The useful tool to demonstrate umbilical cord is a color Doppler.

Omphalocele is often accompanied by the increased amount of the amniotic fluid. Ascites can be present as well. If the covering membrane ruptures, it may be difficult to differentiate from gastroschisis.
 
Diagnostic clues:
  • Smooth midline protruding mass covered by membranes
  • Umbilical cord insertion onto the membrane of the mass
  • Mass contains mainly small intestine and liver
  • Increased amount of the amniotic fluid

Associated findings

Omphalocele is often associated with other abnormalities. It can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome and syndrome of unknown etiology.
Most common are associated cardiac defects (50%) such as atrial and ventricular septal defects and Tetralogy of Fallot. Gastrointestinal defects are present in 40% of associated structural anomalies.
This is the list of associated abnormalities: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig.[3]
Fetuses with omphalocele have 30-40% risk of chromosomal abnormalitites. The chromosomal abnormality is more likely if omphalocele contains only small intestine.[4]
This is the list of chromosomal  abnormalitites which can be associated with omphalocele: trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup (3q), dup (11p), inv (11), dup (1q), del (1q), dup (4q), dup (5p), dup (6q), del (9p), dup (15q), dup(17q), Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD) such as UPD 11 and UPD 14.[5]

Differential diagnosis

Physiologic gut herniation - can be detected before 12 weeks, contains only bowel
Gastroschisis -  no covering membrane, cord inserts on abdominal wall, only loops of bowel
Cloacal or bladder exstrophy – absent bladder, lower abdominal wall
Pentalogy of Cantrell – ectopia cordis
Allantoic or omphalomesenteric duct cysts

Prognosis

Prognosis depends on the size of the omphalocele and the presence of associated findings.  Fetuses with small omphalocele and no associated anomalies have a very good prognosis with a survival around 80-90%.[6] Fetuses with associated chromosomal and structural abnormalities have mortality rate around 80-100%.
Treatment
Delivery should be planned at tertiary centers. The surgical treatment depends on the size of the omphalocele. The neonates with large omphalocele have usually limited pulmonary reserve which may result into the respiratory failure after the omphalocele surgical repair.[6]

Conclusion

Prenatal diagnosis of omphalocele should alert one to the possibility of omphalocele-related disorders and chromosomal abnormalities and familial unbalanced translocations and prompt genetic counseling and eventually cytogenetic investigations.[3,5] 

Case 1

This is a case of the omphalocele diagnosed in the third trimester, 35 weeks. Ultrasound examination did not reveal any other associated findings. The patient delivered at term and the neonate underwent successful surgical repair.

Images 1,2: Images show a 3D-image of the omphalocele.



Image 3: Image shows the abdominal wall defect, omphalocele with umbilical cord.



Image 4: Image of the neonate with omphalocele.




Case 2

This is a case of a 25-year-old G1 P0 with a diamniotic dichorionic pregnancy. The ultrasound examination of the first twin was normal. There was an omphalocele at the second twin with no other associated anomalies.
The neonate underwent surgery after delivery and is doing well.

Images 1,2: A transverse view of the abdomen with omphalocele. The defect is in the midline with umbilical cord inserted to the top of the protruding mass. Omphalocele contains part of the liver.



Images 3,4: Omphalocele, note the thin membrane which covers the surface of the omphalocele. Image 4 shows a sagittal view of the abdomen.
 


Images 5,6: Images of the neonate with omphalocele taken after delivery.



Images 7: A twin after surgical correction of the omphalocele.



Case 3
 
This is a 29-year-old-woman with unremarkable history scanned at 32 weeks. Ultrasound examination revealed an omphalocele containing liver and bowels. A two-vessel umbilical cord was also present.

Images 1,2: 32nd week of pregnancy. Color Doppler images showing omphalocele containing bowels and liver tissue and umbilical vein crossing in the middle.

 

Images 3,4: 32nd week of pregnancy. Gray scale (image 3) and color Doppler (image 4) images showing omphalocele containing bowels and liver tissue and umbilical vein crossing in the middle.

 

Images 5,6: 32nd week of pregnancy. Color Doppler (image 5) and gray scale (image 6) images showing two vessel cord with poor coiling.

 

Images 7, 8: Postnatal appearance of the baby with the omphalocele.

 

Case 4

This is a 21-year-old woman, with unremarkable past obstetrical history, scanned at 13 weeks of pregnancy. The ultrasound revealed an omphalocele containing liver tissue and bowels.

Images 1,2: 2D sagittal (left) and transverse (right) scans showing omphalocele containing liver and bowels.

 

Image 3: Color Doppler sagittal scan showing umbilical vein at the level of the omphalocele.



Images 4, 5: 3D images showing omphalocele.

 

Case 5

This is a 30-year-old woman with no family history of malformation or genetics disorders. She was referred to our unit at 21 weeks, due to an omphalocele. The first scan performed at 11 weeks was normal. The first trimester screening was also normal (the triple test and the nuchal translucency) was also normal. At 16 weeks, an amniocentesis was performed (46 XX). Ultrasound scan at 21 weeks revealed no polyhydramnios. The fetal movement seemed normal. There were no associated anomalies. The omphalocele contained part of the liver and bowel. 

Image 1: Sagittal view showing the omphalocele at 21 weeks.



Images 2,3: Frontal 3D view showing the omphalocele at 21 weeks.

 

Images 4,5: Transverse view showing the omphalocele at 25 weeks.

 

Images 6,7: Sagittal 3D view showing the omphalocele at 25 weeks.

 

Images 8,9: Transverse view showing the omphalocele at 25 weeks (Image 8) and 28 weeks (Image 9)

 

Images 10,11: Image 10 shows a transverse view showing the omphalocele at 25 weeks. Image 11 shows a 3D image of the omphalocele at 28 weeks.

 

Images 12,13: Coronal 3D view showing the omphalocele at 32 weeks

 

Image 14: Postnatal view of the omphalocele just after the cesarean.



Image 15: Postnatal view showing the landing omphalocele at day one.



Image 16: Postnatal view showing the landing and compressing omphalocele at day three.



Image 17: Post-surgery view of the abdominal wall.




Gastroschisis


Gastroschisis is a herniation of the bowel through a paramedian abdominal wall defect. In majority of the cases the defect of the abdominal wall is on the right. There are rare cases of left-sided defects. Gastroschisis usually contains small bowel. The herniated bowel is not covered by a membrane and floats freely in the amniotic fluid.[7]
 
Incidence

Incidence is between 0.5:10,000 and is increasing. Teenage mothers have 6-10 times higher incidence of gastroschisis than mothers over 25 years old. Mothers using vasoactive substance such as cocaine, nicotine, decongestants and aspirin have a higher incidence of gastroschisis as well. Rates of gastroschis are recently increasing.

Pathogenesis

Four main hypothesis on pathophysiology of gastroschisis have been suggested. [7,9,10]
 
1) Failure of mesoderm to form in the body wall
2) Rupture of the amnion around the umbilical ring with a subsequent herniation of the bowel
3) Abnormal involution of the right umbilical vein occurring in the 6th-7th week of gestation causing a weakening of the body wall and bowel herniation
4) Disruption of the right vitelline (yolk sac) artery with subsequent body wall damage and gut herniation

Newer theory suggests that abnormal folding of the body wall results in a ventral abdominal wall defect and bowel herniation.[10] 

Diagnosis
Key diagnostic tool is an antenatal sonography with a detection rate around 70%.[8] The levels of maternal serum alpha-fetoprotein are increased in majority of cases because the herniated fetal bowel is not protected by the membrane and is bathed by amniotic fluid.

Ultrasound findings
Herniated bowel loops with no covering membrane can be easily detected on the prenatal ultrasound. Color Doppler is useful tool to identify a normal umbilical cord insertion.
 
  • Extraabdominal bowel loops with no covering membrane
  • Defect usually on the right side from the umbilical cord insertion
  • Normal umbilical cord insertion
  • Dilation of the bowel loops
  • Thickenned, echogenic bowel wall
  • Malposition of the stomach
  • Decreased amount of the amniotic fluid, more common than increased amount
     
Greater dilation of the bowel loops suggests poorer prognosis. Bowel wall is directly exposed to the amniotic fluid which is causing chemical peritonitis. As a result of this chemical irritation, bowel wall thickens and becomes echogenic and nodular. Stomach is often moved from the typical location. Intrauterine growth restriction and decreased amount of the amniotic fluid is a common finding. Increased amount of the amniotic fluid can be associated with intestinal obstruction [7].
Close ultrasound follow-up is very important. We should always check for a bowel dilation, fetal growth and amount of the amniotic fluid as a signs of fetal distress. Doppler evaluation of umbilical artery and middle cerebral artery is suggested in case of intrauterine growth restriction. Herniated bowel should be checked for signs of complications such as dilation and wall thickening.
Spontaneous resorption of gastroschis has been documented and is usually associated with bowel atresia and ischemia or short bowel syndrome.
 
Differential diagnosis

Omphalocele – midline defect of the abdominal wall, herniated content covered with membrane, umbilical cord insert on the top of membrane.
Body stalk anomaly - set of disruptive abnormalities characterized by a severe body-wall defect (thorax, abdomen or both), evisceration of the abdominal organs into an amnioperitoneal sac and a shortened or absent umbilical cord.
Cloacal exstrophy – omphalocele, absent bladder, lower abdominal wall defect with genitourinary and spine anomalies.
Bladder exstrophy – absent bladder, cord insertion above the wall defect.
Amniotic band syndrome – multiple organs affected, often extremities and head
Physiologic gut herniation – bowel return to the abdominal cavity by 12 weeks of gestation, small midline defect.
Beckwith-Wiedemann syndrome – omphalocele, organomegaly, macroglossia and polyhydramnios.
Pentalogy of Cantrell – large abdominal wall defect with omphalocele, ectopia cordis, diaphragmatic hernia [11]

Prognosis

Prognosis is quite favorable with a survival rate around 90% and depends mainly on the stage of bowel [12].
Gastroschisis is usually an isolated finding and is rarely associated with chromosomal anomalies. Incidence of associated non-gastrointestinal structural anomalies is less than 5%. These anomalies include mostly cardiac, urogenital anomalies such as hypoplastic bladder, Meckel diverticulum and hydronephrosis. The gastrointestinal anomalies are usually caused by malrotated or non-rotated bowel.
Bowel complications are much more common than in case of omphalocele. The most common causes of postnatal complications and eventually early neonatal death include: small bowel atresia, bowel ischemia, obstruction and perforation [7,13].
  
Treatment

Amnioinfusion may reduce the inflammatory response in the amniotic fluid and thus improve prognosis [12]. Patient should be always delivered in the tertiary care center and an early surgical repair should follow the delivery. The surgical procedure may be staged to prevent the sudden increase of the intraabdominal pressure after the bowel return. Parenteral nutrition is necessary after surgery and may be required for several weeks [7]. 

Case 1

This is a case of a 17-year-old G1 P0 presented to our department at 18 weeks of gestation. We discovered a right-sided gastroschisis. No other anomalies were detected. These are some ultrasound images we obtained during the scan at 18 and 22 weeks.

Images 1,2: 18 weeks; Images showing herniated bowel (arrow).



Images 3,4: Sagittal and transverse view of the abdomen, note the abdominal wall defect with herniated bowel which is located on the right-hand side lateral to the umbilical cord insertion.



Images 5,6: 22 weeks; Transverse view of the abdomen with abdominal wall defect and herniated bowel.



Images 7,8: Doppler images of umbilical cord insertion which is of normal appearance and not involved in the abdominal wall defect, difference from omphalocele.



Case 2

This is a case of a 16-year-old G1 P0 who was referred to our department at 35 weeks of gestation. Ultrasound examination revealed a right-sided gastroschisis. No other abnormalities were detected. The patient delivered at term. There were no other findings except of gastroschisis. The baby underwent surgery and is doing fine at the moment.

Images 1,2: Transverse view of the abdomen, note the bowel loops in front of the abdominal wall.



Images 3,4: Bowel loops floating in the amniotic fluid outside of the abdominal cavity.



Image 5: 3-D image of the abdomen showing the bowel outside, in front of the abdominal wall.



Images 6,7: The neonate after delivery, note the defect of the abdominal wall.



Case 3

This is a 17-week fetus with gastroschisis.

 

 

 

 

 

 

Case 4

This is second trimester fetus with a gastroschisis.

Images 1,2: Herniated bowel with no covering membrane.

 

Images 3,4: Transverse view of the abdomen, color Doppler showing a normal umbilical cord insertion. Abdominal wall defect is on the right, next to the cord insertion. 

 

Images 5,6: Neonate after delivery.

 

Image 7: The newborn during the surgery.

Case 5

This is a case of  a 18 -year-old G1 P0 who was referred to our department at 27 weeks of gestation for a suspicion of a gastroschisis which was diagnosed during the second trimester ultrasound scan performed at 20 weeks of gestation. The ultrasound examination at 27 weeks confirmed gastroschisis. We did not found any other abnormalities. The karyotype of the fetus was normal, 46 XX. Ultrasound did not reveal any signs of meconium peritonitis.

Ultrasound examination at 31 weeks did not show any abnormal dilation of the intestine. The urinary bladder seemed to be outside of the abdomen as well. Subsequent ultrasound examinations at 32 and 35 weeks confirmed the location of the urinary bladder.

Patient delivered at 36 weeks of gestation via cesarean section. The examination of the neonate showed gastroschisis, urinary bladder, uterus and one ovary where outside of the abdomen, herniating via defect of the abdominal wall. Surgery for gastroschisis repair was performed immediately after delivery.

Images 1,2: 27 weeks, images showing the bowel located outside of the abdomen due to a defect in the abdominal wall.



Images 3,4: Image 3 shows a dilation of the intestine. Image 4 show urinary bladder which was located outside of the abdomen.



Images 5-8: Images of the intestine and urinary bladder.





Images 9,10: 35 weeks, Image 9 shows urinary bladder and female genitalia. Image 10 shows urinary bladder.



Images 11: 35 weeks, small intestine located outside of the abdomen.

 

Images 12,13: MRI images, note the abdominal wall defect. Arrow on the image 13 shows a urinary bladder located outside of the abdomen.




Body stalk anomaly / Limb-body wall complex

Limb body wall complex was described for the first time by Van Allen et al. in 1987 [15,16]. Two of the three following anomalies must be present to establish the diagnosis:
 
1) Thoracic and/or abdominal celosomia.
2) Exencephaly or encephalocele with a facial cleft.
3) Anomalies of the extremities.
 
Up to date the nosologic definition and limits are still discussed. For certain authors the anomaly consists of a poly-malformation syndrome with a thoraco- and/or abdomino-schisis associated with an eventration of the internal organs and anomalies of the extremities [17,18,32]. Russo et al. in 1993 [19,20] and later Cusi et al. in 1996 distinguished two different phenotypes according to the fetoplacental relationships.
 
In the phenotype with the “cranio-placental attachment” a neural tube closure defect is associated with one or more complex facial clefts and an anterior coelosomy, whereas amniotic bands are inconstant and anomalies of the extremities, if any, touch primarily the upper limbs [19,20, 21, 22,32].
 
In the phenotype with the “abdomino-placental attachment” the authors describe:
  • A persistence of the cavity of the extraembryonic coelom containing the exteriorized abdominal organs. The sac connects the cutaneous edge of the parietal defect to placental surface. The umbilical cord is always localized on the wall of this bag; it is short, non-free and is incompletely covered by the amnion
  • Urogenital anomalies and the persistence of the primitive cloaca
  • Skeletal anomalies

Anomalies of the extremities are optional and affect primarily the lower limbs. The placenta is separated in two parts by the abdomino-placental attachment: one corresponds to the amniotic cavity containing the fetus, the other to the extraembryonic coelom containing the eventrated organs. Neither cerebral malformations nor amniotic bands have been described in this phenotype [22,32].
 
Incidence

The limb body wall complex syndrome is not always correctly diagnosed, therefore, it's incidence is difficult to estimate. Kurosawa et al. estimated the incidence in approximately 0.21 to 0.31 cases per 10,000 births and found no connection to fetal sex, parental age or any other associated genetic anomalies [23, 24]. More recently, Luehr et al. presented a series of 11 cases out of 33,286 births with a higher incidence: 3.3:10,000 births. Several environmental factors (tobacco, alcohol and certain drugs) were mentioned in this report with an assumption of a possible genetic predisposition [25].
 
Pathogenesis

Below are three main pathophysiologic theories of this syndrome: 
 
1) Exogenic theory: Torpin et al. described in 1965 (26) this theory which is based in amnions’ early rupture leading to the formation of amniotic bands. Several pathogenetic factors like abdominal trauma, toxic agents and oral contraception early in the first trimester have been suggested. Amniotic bands disrupt normal embryogenesis and are responsible for deformations and mutilations of already formed fetal structures.
 
2)  Endogenous or vascular theory which was described by Van Allen et al. in 1987 and suggests an ischemic accident of the embryonic vessels between 4 and 6 weeks of gestation as the origin of this disease [15]. According to this theory, ischemia leads to a significant loss of fetal tissue, impairment of fetal development, abdominal wall disclosure, persistence of the extraembryonic coelom and adhesion of the amnion to the necrotized fetal parts.
 
3) Streeter’s theory initially described in 1930 and subsequently developed by Hartwig [27] is based on the assumption of an impaired folding process of the embryo.
 
These three theories can not entirely explain the pathophysiology of this complexed syndrome, Mastroiacovo et al. suggested that the limb body wall complex needs to be divided into two different entities [22,28]: the entity with placento-cranial attachment, also called “original”, and the form with placento-abdominal attachment also called “body stalk syndrome”.
 
Ultrasound findings

Ultrasonographic diagnosis of the limb body wall complex can be made at the end of the first trimester [29,32]. Color Doppler is very useful for detection of the umbilical cord.
 
  • In the first trimester, part or all of fetus is located outside the amniotic cavity, normal umbilical cord is not seen
  • Fetus looks abnormal and can not be separated from the placenta
  • Fetus is grossly distorted with lost anatomic landmarks 
  • Umbilical cord is short or absent
  • Vessels running straight from the placenta to the torso 
  • Multiple malformations:
    Large thoraco-abdominal defect
    Scoliosis
    Limb defects: clubfoot, arthrogryphosis, polydactyly, absent limbs
    Encephalocele
    Facial defects
    Amniotic bands

Differential diagnosis

Numerous diseases should be excluded before establishing the diagnosis:
 
Amniotic band syndrome, some authors consider the limb body wall complex as a severe form of amniotic band syndrome since 40% of amniotic bands are found in body stalk anomaly [32].
Gastroschisis
Omphalocele
Pentalogy of Cantrell
Cloacal extrophy, OEIS complex
 

Prognosis

Body stalk anomaly is a lethal conditions based on the severe malformations of the fetus. It can be detected via ultrasonography early in the pregnancy. There is no known recurrence risk for this condition and it is not associated with an abnormal karyotype. Termination of the pregnancy should be offered.

Case 1

This is a case of a 23-year-old G4P3 who came to our department for the routine ultrasound scan. She was at 23 weeks of her gestation and had non-contributive family or personal history.
The ultrasound examination found the following: Large abdominal wall defect with herniation of the liver and heart; Severe spinal deformities, scoliosis; Clubfoot; Low set ears; Extremaly short umbilical cord with single umbilical artery; Enlarged amount of the amniotic fluid; Fetus fixed to the placenta.

Our diagnosis based on the ultrasound examination was a Body stalk anomaly. The clinical examination after delivery confirmed our diagnosis. There was a large abdominal defect with visceral organs herniating outside of the abdominal cavity, adhering to the placenta. The neonate died shortly after delivery.

Images 1,2: Images show severely distorted spine.



Image 3,4: Abdominal wall defect with herniated visceral organs, adhering to the placenta.



Images 5,6: Image 5 shows upper extremity with abnormal position of the hand. Image 6 shows herniated visceral organs adhering to the placenta.



Images 7,8: Extremely short umbilical cord.

 

Videos 1,2: Doppler imaging showing the short umbilical cord and herniated bowel and liver.

 


Videos 3,4:
Herniated visceral organs with bowel adhering to the placenta

 

Images 9 - 12: Images of the baby. Note large abdominal wall defect with eviscerated organs and malformed lower extremities, severely distorted spine.





Case 2

This is a case of a dichorionic diamniotic twin pregnancy. Patient was referred for an ultrasound scan at 23 weeks of gestation. One of the twins was normal, with no detected abnormalities. The second twin was in a fixed position, inseparable from the placenta. The ultrasound examination detected the following findings:

  • Eviscerated organs, liver and heart were attached to the placenta
  • Lateral body wall defect
  • Severe scoliosis of the spine
  • Extremely short umbilical cord with no coiling

The final diagnosis based on the ultrasound findings was Body stalk anomaly.

Images 1,2
: Image 1 shows the interamniotic membrane. Image 2 shows the part of the fetus adhering to the placenta.



Images 3,4: Image 3 shows a visceral organs adhering to the placenta. Image 4 shows distorted feet.



Images 5,6: Image 5 shows severely distorted fetus adhering to the placenta. Image 6 shows a severe scoliosis.



Images 7,8: Image 7
shows a transverse view of the thorax, note eviscerated heart. Image 8 shows anterior abdominal wall adhering to the placenta.


Images 9 - 11: Images show a short umbilical cord without any coiling, umbilical vessels run directly from the placenta to the attached fetus.





Videos 1,2Videos show herniated visceral organs, liver attached to the placenta, grossly distorted fetus.

 

Images 12 -14: Images of the fetus, note severely distorted torso and extremitites, anterior abdominal wall defect with herniated visceral organs adhering to the placenta.





Case 3
 
A 17-year-old G1P0 presented to our unit at 16 weeks + 2 days of pregnancy. The fetus was without cardiac activity and presented with limb-body stalk anomaly. Here are some ultrasonographic and pathological images that we obtained.
 
Images 1,2: 17 weeks of pregnancy; Image 1 shows a transverse scan at the level of the thorax with ectopia cordis. Image 2 shows the anterior abdominal wall defect with eventration of the liver.
 
 
 
Image 3: 17 weeks of pregnancy. Transverse scan through the thorax - the amniochorionic separation is visible.
 

 
Images 4,5: Pathological specimens.
 
 
 

Case 4

A 25-year-old woman was referred to our department at 15th week of gestation. The ultrasonography showed a live fetus with an inferior abdominal wall defect measuring 20x20 mm, protruding from the anterior abdominal wall. The urinary bladder was not seen. Lower limbs were malpositioned.

After genetic counseling parents opted for termination of the pregnancy. On pathological specimens a midline spherical mass containing liver and bowel was protruding from the anterior abdominal wall and deformities of the lower limbs and pelvis. An autopsy confirmed the diagnosis of the limb body wall complex without craniofacial defect. The karyotype was normal (46, XX).

 
Images 1,2:  15 weeks of pregnancy; 2D ultrasonography showing an abdominal wall defect. 

 

Images 2,3: Post abortion pathological specimen - left; and radiogram (right).

 

Case 5

A 42-year-old patient, G5P2, was referred to our hospital for a follow-up of her 13 weeks old pregnancy. Her first echographic examination revealed an intra uterine pregnancy with multiple malformations. An anterior body wall defect was the predominant feature of sonographic examination with evisceration of the heart, stomach and bowel which were found floating in the persistent extraembryonic coelom. Skeletal anomalies included hypoplasia of the left forearm with only one bone fragment being present, hypoplasia of the hand with absence of fingers and apparent kyphoscoliosis (Images 1, 2, 3, 4, 5). The umbilical cord was not visualized because the fetus was coupled with the extraembryonic coelom. Placenta was found to be praevia and suspected to be accreta infiltrating the uterine scar without evident limits between the placenta and the myometrium and with an intense vascularization reaching even the serosa (Image 6). The diagnosis of placenta accreta was confirmed by an MRI.


Parents decided for the pregnancy termination, pathology examination (Image 7) confirmed the diagnosis of the limb body wall complex syndrome and placenta accreta.


Images 1,2
: The image 1 shows the laparoschisis with the evisceration of the fetal organs into the extraembryonic coelom; the image 2 shows the fetal thoracoschisis.

 

 

Images 3, 4: The image 3 shows the fetal kyphoscoliosis; the image 4 shows the normal fetal head. 

 

Images 5, 6: The image 5 shows a left upper limb abnormality – only one bone can be seen without the forearm and hand; the image 6 shows an enhanced abnormal blood flow within the previous C section scar reaching the uterine serosa. The placenta previa and accreta was indicated. 

 

Image 7: Pathological specimen after the artificial abortion showing the fetus with the thoraco-abdominal celosomia, kyphoscoliosis and left upper limb abnormality.

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